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LOC111556152 H3K4me1 hESC enhancer GRCh37_chr16:81625679-81626527 [ Homo sapiens (human) ]

Gene ID: 111556152, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111556152
Gene description
H3K4me1 hESC enhancer GRCh37_chr16:81625679-81626527
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. A subregion was also validated as an enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. That subregion contains a motif for the HNF4 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81592074..81592922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87653735..87654583)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81625964..81626108)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene c-Maf inducing protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81527049-81527782 Neighboring gene peptidylprolyl isomerase A pseudogene 51 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81530785-81531426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81546458-81547288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81549519-81550168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:81551802-81552499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81553011-81553629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81565885-81566386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81566387-81566886 Neighboring gene microRNA 7854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81586378-81586984 Neighboring gene Sharpr-MPRA regulatory region 2593 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81615785-81616602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81626528-81627375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81649495-81650338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81650339-81651181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81652108-81652708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81660988-81661609 Neighboring gene microRNA 6504 Neighboring gene uncharacterized LOC105371362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81666826-81667665 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81667666-81668506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81678346-81679052 Neighboring gene Sharpr-MPRA regulatory region 7704

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, Free PMC Article
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • HNF4 activator MPRA enhancer 117
  • HNF4 motif-containing MPRA enhancer 117
  • massively parallel reporter assay enhancer 117

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055976.2 

    Range
    101..949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    81592074..81592922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    87653735..87654583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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